Abstract
Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in association with immune thrombocytopenic purpura and a transient clinical syndrome mimicking juvenile myelomonocytic leukemia. A Japanese boy, who was the first child of non-consanguineous healthy parents, developed bloody diarrhea, perianal fistula, and folliculitis in early infancy and was diagnosed with inflammatory bowel disease. He also developed immune thrombocytopenic purpura and transient features mimicking juvenile myelomonocytic leukemia. The patient failed to respond to various treatments, including elemental diet, salazosulfapyridine, metronidazole, corticosteroid, infliximab, and adalimumab. We identified a novel mutation (c.537G > A, p.T179T) in exon 4 of the IL10RA gene causing unique splicing aberrations and resulting in lack of signaling through the interleukin-10 receptor. At 21 months of age, the patient underwent alloge...Continue Reading
References
Oct 1, 1996·The Journal of Experimental Medicine·K GeisslerK Lechner
Oct 6, 1997·The EMBO Journal·S V KotenkoS Pestka
Oct 8, 1999·Trends in Endocrinology and Metabolism : TEM·I J Elenkov, G P Chrousos
Jun 1, 2004·Nature Reviews. Genetics·Franco Pagani, Francisco E Baralle
Oct 7, 2004·Journal of Medical Genetics·K YamamotoM Yasukawa
Jun 30, 2005·BMC Structural Biology·Sergei PletnevAlexander Zdanov
Jun 20, 2007·Nucleic Acids Research·Emanuele BurattiIgor Vorechovsky
Nov 14, 2008·Blood·Francesco RodeghieroJames N George
Nov 6, 2009·The New England Journal of Medicine·Erik-Oliver GlockerChristoph Klein
Oct 12, 2010·Lancet·Erik-Oliver GlockerBodo Grimbacher
Dec 15, 2010·PloS One·Kozo NagaiMasaki Yasukawa
Apr 27, 2011·The American Journal of Gastroenterology·Bernadette BegueFrank M Ruemmele
May 3, 2012·Gastroenterology·Daniel KotlarzChristoph Klein
May 3, 2012·Inflammatory Bowel Diseases·Christopher J MoranAleixo M Muise
Nov 20, 2012·The Journal of Allergy and Clinical Immunology·Karin R EngelhardtErik-Oliver Glocker
Oct 4, 2013·Blood·Bénédicte NevenAlain Fischer
Nov 13, 2013·Inflammatory Bowel Diseases·Bénédicte PigneurFrank M Ruemmele
Feb 11, 2014·Advances in Immunology·Dror S ShouvalScott B Snapper
Feb 13, 2014·Journal of Clinical Immunology·Dhaarini MuruganDaniel Kotlarz
May 3, 2014·Journal of Human Genetics·Jung Ok Shim, Jeong Kee Seo
May 6, 2014·Immunity·Dror S ShouvalScott B Snapper
May 13, 2014·Journal of Crohn's & Colitis·Cheng Hiang LeeMichael O Stormon
Nov 7, 2014·Journal of Pediatric Gastroenterology and Nutrition·Omer Faruk BeşerTülay Erkan
Jan 8, 2015·Blood·Franco Locatelli, Charlotte M Niemeyer
Jun 24, 2016·Journal of Pediatric Gastroenterology and Nutrition·Dror S ShouvalScott B Snapper
Citations
Oct 30, 2016·Journal of Crohn's & Colitis·Seak Hee OhKyuyoung Song
Oct 30, 2016·Innate Immunity·Celia Escudero-HernándezEduardo Arranz
Mar 8, 2017·Inflammatory Bowel Diseases·Zhiheng HuangYing Huang
Nov 16, 2017·Inflammatory Bowel Diseases·Ziqing YeZhinong Jiang
Oct 19, 2017·Journal of Pediatric Gastroenterology and Nutrition·Moran Y NunbergDror S Shouval
Sep 20, 2018·European Journal of Clinical Investigation·Cristina Alonso-MontesIsabel Rodríguez
Sep 11, 2018·European Journal of Gastroenterology & Hepatology·Eun Suk JungHong Koh
Jul 8, 2020·Immunological Investigations·Farzaneh RahmaniNima Rezaei
Aug 28, 2020·Pediatric Transplantation·Maged KhederAmir Ali Hamidieh
Mar 14, 2018·World Journal of Gastroenterology : WJG·You-Hong FangJie Chen
Jan 1, 2020·Hereditas·Hongyan LvLianxiang Li
Aug 28, 2020·Frontiers in Oncology·Shujuan WangYanfang Liu
May 23, 2018·Inflammatory Bowel Diseases·Kaiyue PengYing Huang
May 15, 2018·Frontiers in Genetics·Fahad A Al-AbbasiNoor A Shaik
Jan 29, 2021·World Journal of Gastroenterology : WJG·Wen SuYuan Xiao